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通过第一极体和第二极体荧光原位杂交分析进行常见非整倍体的植入前诊断。

Preimplantation diagnosis of common aneuploidies by the first- and second-polar body FISH analysis.

作者信息

Verlinsky Y, Cieslak J, Ivakhnenko V, Evsikov S, Wolf G, White M, Lifchez A, Kaplan B, Moise J, Valle J, Ginsberg N, Strom C, Kuliev A

机构信息

Reproductive Genetics Institute, Chicago, Illinois 60657, USA.

出版信息

J Assist Reprod Genet. 1998 May;15(5):285-9. doi: 10.1023/a:1022592427128.

Abstract

PURPOSE

A low pregnancy rate in in vitro fertilization (IVF) patients of advanced maternal age may be caused by aneuploidies originating from non disjunction in the first or second meiotic divisions. We introduced genetic testing of oocytes by sampling and fluorescent in situ hybridization (FISH) analysis of the first and second polar bodies, to avoid fertilization and transfer of aneuploid oocytes in IVF patients of advanced maternal age.

METHODS

Three hundred and sixty-three IVF patients 34 years and older participated in the study. Using micromanipulation procedures, the first and second polar bodies were removed following their extrusion from the oocytes and studied by FISH, using probes specific for chromosomes 13, 18, and 21 to detect oocytes with common aneuploidies.

RESULTS

Of a total of 538 IVF cycles, 3250 oocytes were available for FISH analysis, with conclusive FISH results in 2742 oocytes (84.3%). As many as 1102 (40%) of oocytes were predicted to be aneuploid and not transferred. Of 1640 embryos predicted to be normal, 1145 were transferred in 467 treatment cycles, resulting in 107 pregnancies (23%), from which 67 healthy children have been born, 32 pregnancies spontaneously aborted, and 15 pregnancies are ongoing after being confirmed normal by prenatal diagnosis.

CONCLUSIONS

Preimplantation diagnosis by first- and second-polar body FISH analysis allows us to avoid the age-related risk of common aneuploidies in IVF patients of advanced maternal age.

摘要

目的

高龄产妇体外受精(IVF)患者的低妊娠率可能是由于第一次或第二次减数分裂中非整倍体分离异常所致。我们通过对第一极体和第二极体进行采样和荧光原位杂交(FISH)分析来引入卵母细胞基因检测,以避免高龄IVF患者中异常卵母细胞的受精和移植。

方法

363名34岁及以上的IVF患者参与了该研究。使用显微操作程序,在第一极体和第二极体从卵母细胞中挤出后将其取出,并使用针对13号、18号和21号染色体的特异性探针通过FISH进行研究,以检测具有常见非整倍体的卵母细胞。

结果

在总共538个IVF周期中,有3250个卵母细胞可用于FISH分析,其中2742个卵母细胞(84.3%)获得了明确的FISH结果。多达1102个(40%)卵母细胞被预测为非整倍体且未进行移植。在1640个预测为正常的胚胎中,有1145个在467个治疗周期中进行了移植,结果有107例妊娠(23%),其中67名健康婴儿已出生,32例妊娠自然流产,15例妊娠在经产前诊断确认为正常后仍在继续。

结论

通过第一极体和第二极体FISH分析进行植入前诊断,使我们能够避免高龄IVF患者中与年龄相关的常见非整倍体风险。

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